{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T10:42:34Z","timestamp":1770720154157,"version":"3.49.0"},"reference-count":22,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":4604,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1992,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Clinical findings were compared with the results of molecular analysis in 16 Japanes patients from 10 unrelated families with the adult\/chronic form of GM1 gangliosidosis. Age of onset ranged from 3 to 30 years. Major clinical manifestations were gait and speech disturbances caused by persistent muscle hypertonia. Dystonic postures and movements, facial grimacing, and parkinsonian manifestations were commonly seen. Cerebellar signs, myoclonus, severe intellectual impairment, dysmorphism, or visceromegaly were not observed. A common single\u2010base substitution, <jats:sup>51<\/jats:sup><jats:italic>Ile(ATC)\u2192Thr(ACC)<\/jats:italic>, reported in a previous study of ours, was confirmed in 14 patients by the <jats:italic>Bsu<\/jats:italic>361 restriction site analysis; one was a compound heterozygote with another mutation (<jats:sup>457<\/jats:sup>Agr{CGA}\u2192<jats:italic>Gln{CAA}<\/jats:italic>) and the others were homozygotes of this mutation. Clinically, the compound\u2010heterozygous patient showed more severe neurological manifestations and a more rapid clinical course than those of homozygotes. The homozygotes showed considerable variations in the age of onset and subsequent clinical course. The <jats:sup>51<\/jats:sup><jats:italic>Ile\u2192Thr<\/jats:italic> mutant allele expressed a significant amount of \u03b2\u2010galactosidase activity, whereas the <jats:sup>457<\/jats:sup><jats:italic>Arg\u2192Gln<\/jats:italic> mutant allele extremely low activity in human GM1 gangliosidosis fibroblasts. We conclude that these gene mutations causing different residual enzyme activities are related to the severity of clinical manifestations, but some other genetic or environmental factors contribute to clinical heterogeneity. The <jats:italic>Bsu<\/jats:italic>361 retriction site analysis was performed in 7 families and provided clear results for the diagnosis of heterozygotes as well as homozygotes of this specific clinical form of GM1 gangliosidosis. The technique is applicable to prenatal diagnosis and genetic counseling.<\/jats:p>","DOI":"10.1002\/ana.410310316","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T12:11:00Z","timestamp":1104581460000},"page":"328-332","source":"Crossref","is-referenced-by-count":71,"title":["GM1 gangliosidosis in adults: Clinical and molecular analysis of 16 Japanese patients"],"prefix":"10.1002","volume":"31","author":[{"given":"Kunihiro","family":"Yoshida","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Oshima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hitoshi","family":"Sakuraba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Nakano","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nobuo","family":"Yanagisawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koji","family":"Inui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shintaro","family":"Okada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ei\u2010ichiro","family":"Uyama","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Reiko","family":"Namba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyohiko","family":"Kondo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shin\u2010ichi","family":"Iwasaki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kiyoshi","family":"Takamiya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiyuki","family":"Suzuki","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"1797","volume-title":"The metabolic basis of inherited disease","author":"O'Brien JS","year":"1989"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273261"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1978.tb01185.x"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00158.x"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.6.875"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(85)90060-7"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00314770"},{"key":"e_1_2_1_9_2","first-page":"819","article-title":"Three siblings with type 3 GM1\u2010gangliosidosis: pathophysiology of dystonia and MRI findings","volume":"30","author":"Uyama E","year":"1990","journal-title":"Clin Neurol (Tokyo)"},{"key":"e_1_2_1_10_2","first-page":"435","article-title":"Human \u03b2\u2010galactosidase gene mutations in GM1\u2010gangliosidosis: a common mutation among Japanese adult\/chronic cases","volume":"49","author":"Yoshida K","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_2","first-page":"566","article-title":"GM1\u2010gangliosidosis (genetic \u03b2\u2010galactosidase deficiency): identification of four mutations in different clinical phenotypes among Japanese patients","volume":"49","author":"Nishimoto J","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(82)90257-1"},{"key":"e_1_2_1_13_2","first-page":"784","article-title":"Identification of point mutations in the \u03b1\u2010galactosidase A gene in classical and atypical hemizygotes with Fabry disease","volume":"47","author":"Sakuraba H","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(88)80038-X"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410090509"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410090510"},{"key":"e_1_2_1_17_2","unstructured":"KondoK OguchiK YanagisawaN et al.Chronic GM1\u2010gangliosidosis: an adult case of localized neuronal storage in the basal ganglia. Abstracts of the IX International Congress of Neuropathology Vienna 1982:221"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4684-1200-0_35"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.20.2.190"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500020048008"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.7.787"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.1.145"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80467-5"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410310316","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410310316","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T04:09:14Z","timestamp":1698120554000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410310316"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,3]]},"references-count":22,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,3]]}},"alternative-id":["10.1002\/ana.410310316"],"URL":"https:\/\/doi.org\/10.1002\/ana.410310316","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,3]]}}}